Giorda R - Search Results

1

Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles.

Sironi M, Cagliani R, Comi GP, Pozzoli U, Bardoni A, Giorda R, Bresolin N. Sironi M, et al. Among authors: giorda r. FEBS Lett. 2003 Feb 27;537(1-3):30-4. doi: 10.1016/s0014-5793(03)00066-8. FEBS Lett. 2003. PMID: 12606026 Free article.

2

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.

Cagliani R, Comi GP, Tancredi L, Sironi M, Fortunato F, Giorda R, Bardoni A, Moggio M, Prelle A, Bresolin N, Scarlato G. Cagliani R, et al. Among authors: giorda r. Neuromuscul Disord. 2001 May;11(4):389-94. doi: 10.1016/s0960-8966(00)00207-8. Neuromuscul Disord. 2001. PMID: 11369190

3

The dystrophin gene is alternatively spliced throughout its coding sequence.

Sironi M, Cagliani R, Pozzoli U, Bardoni A, Comi GP, Giorda R, Bresolin N. Sironi M, et al. Among authors: giorda r. FEBS Lett. 2002 Apr 24;517(1-3):163-6. doi: 10.1016/s0014-5793(02)02613-3. FEBS Lett. 2002. PMID: 12062429 Free article.

4

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.

Sironi M, Pozzoli U, Cagliani R, Giorda R, Comi GP, Bardoni A, Menozzi G, Bresolin N. Sironi M, et al. Among authors: giorda r. Hum Genet. 2003 Mar;112(3):272-88. doi: 10.1007/s00439-002-0881-5. Epub 2002 Dec 19. Hum Genet. 2003. PMID: 12596052

5

The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects.

Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U, Castelli E, Bresolin N, Scarlato G. Del Bo R, et al. Among authors: giorda r. J Neurol. 2003 Jun;250(6):688-92. doi: 10.1007/s00415-003-1057-5. J Neurol. 2003. PMID: 12796830

6

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. Cagliani R, et al. Among authors: giorda r. Neuromuscul Disord. 2003 Dec;13(10):788-95. doi: 10.1016/s0960-8966(03)00133-0. Neuromuscul Disord. 2003. PMID: 14678801

7

Silencer elements as possible inhibitors of pseudoexon splicing.

Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U. Sironi M, et al. Among authors: giorda r. Nucleic Acids Res. 2004 Mar 19;32(5):1783-91. doi: 10.1093/nar/gkh341. Print 2004. Nucleic Acids Res. 2004. PMID: 15034146 Free PMC article.

8

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing.

Pozzoli U, Riva L, Menozzi G, Cagliani R, Comi GP, Bresolin N, Giorda R, Sironi M. Pozzoli U, et al. Among authors: giorda r. Biochem Biophys Res Commun. 2004 Sep 17;322(2):470-6. doi: 10.1016/j.bbrc.2004.07.144. Biochem Biophys Res Commun. 2004. PMID: 15325254

9

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT. Vantaggiato C, et al. Among authors: giorda r. Hum Mutat. 2009 Jul;30(7):1104-16. doi: 10.1002/humu.21012. Hum Mutat. 2009. PMID: 19431184

10

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

Salvaterra E, Giorda R, Bassi MT, Borgatti R, Knudsen LE, Martinuzzi A, Nobile M, Pozzoli U, Ramelli GP, Reni GL, Rivolta D, Stazi MA, Strazzer S, Thijs C, Toccaceli V, Trabacca A, Turconi AC, Zanini S, Zucca C, Bresolin N, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group L. Salvaterra E, et al. Among authors: giorda r. Biopreserv Biobank. 2012 Feb;10(1):29-36. doi: 10.1089/bio.2011.0037. Epub 2011 Dec 13. Biopreserv Biobank. 2012. PMID: 24849751

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